The 1p13.3 LDL (C)-Associated Locus Shows Large Effect Sizes in Young Populations

被引：13

作者：

Devaney, Joseph M. ^{[1
]}

Thompson, Paul D. ^{[2
]}

Visich, Paul S. ^{[3
]}

Saltarelli, William A. ^{[3
]}

Gordon, Paul M. ^{[4
]}

Orkunoglu-Suer, E. Funda ^{[1
]}

Gordish-Dressman, Heather ^{[1
]}

Harmon, Brennan T. ^{[1
]}

Bradbury, Margaret K. ^{[1
]}

Panchapakesan, Karuna ^{[1
]}

Khianey, Rahul ^{[1
]}

Hubal, Monica J. ^{[1
]}

Clarkson, Priscilla M. ^{[5
]}

Pescatello, Linda S. ^{[6
,7
]}

Zoeller, Robert F. ^{[8
]}

Moyna, Niall M. ^{[9
]}

Angelopoulos, Theodore J. ^{[10
]}

Kraus, William E. ^{[11
]}

Hoffman, Eric P. ^{[1
]}

机构：

[1] Childrens Natl Med Ctr, Dept Integrat Syst Biol, Med Genet Res Ctr, Washington, DC 20010 USA

[2] Hartford Hosp, Div Cardiol, Hartford, CT 06102 USA

[3] Cent Michigan Univ, Human Performance Lab, Mt Pleasant, MI 48859 USA

[4] Univ Michigan, Lab Phys Act & Exercise Intervent Res, Ann Arbor, MI 48108 USA

[5] Univ Massachusetts, Dept Kinesiol, Amherst, MA 01003 USA

[6] Univ Connecticut, Dept Kinesiol, Storrs, CT 06269 USA

[7] Univ Connecticut, Human Performance Lab, Storrs, CT 06269 USA

[8] Florida Atlantic Univ, Dept Exercise Sci & Hlth Promot, Davie, FL 33314 USA

[9] Dublin City Univ, Dept Sport Sci & Hlth, Dublin 9, Ireland

[10] Univ Cent Florida, Dept Hlth Profess, Orlando, FL 32816 USA

[11] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA

来源：

PEDIATRIC RESEARCH | 2011年 / 69卷 / 06期

关键词：

GENOME-WIDE ASSOCIATION; CIRCULATING OXIDIZED LDL; LOW-DENSITY-LIPOPROTEIN; METABOLIC SYNDROME; CHOLESTEROL; DISEASE; WOMEN; RISK; ADOLESCENTS; PREDICTION;

D O I：

10.1203/PDR.0b013e3182139227

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Genome-wide association studies (GWASs) have identified polymorphic loci associated with coronary artery disease (CAD) risk factors (i.e. serum lipids) in adult populations (42-69 y). We hypothesized that younger populations would show a greater relative genetic component due to fewer confounding variables. We examined the influence of 20 GWAS loci associated with serum lipids and insulin metabolism, in a university student cohort (n = 548; mean age = 24 y), and replicated statistically associated results in a second study cohort of primary school students (n = 810, mean age = 11.5 y). Nineteen loci showed no relationship with studied risk factors in young adults. However, the ancestral allele of the rs646776 (SORT1) locus was strongly associated with increased LDL (C) in young adults [TT: 97.6 +/- 1.0 mg/dL (n = 345) versus CT/CC: 87.3 +/- 1.0 mg/dL (n = 203); p = 3 x 10(x6)] and children [TT: 94.0 +/- 1.3 mg/dL (n = 551) versus CT/CC: 84.7 +/- 1.4 mg/dL (n = 259); p = 4 X 10(x6)]. This locus is responsible for 3.6% of population variance in young adults and 2.5% of population variance in children. The effect size of the SORT1 locus is considerably higher in young populations (2.5-4.1%) compared with older subjects (1%). (Pediatr Res 69: 538-543, 2011)

引用

页码：538 / 543

页数：6

共 32 条

[31] Transitioning from a tertiary paediatric diabetes clinic to a dedicated young person's diabetes service in a large district general hospital is associated with an average increase of HbA1c 7mmol/mol in the 2 years following transition
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[J]. DIABETIC MEDICINE, 2022, 39
[32] Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa
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